ARHGEF9

Cdc42 guanine nucleotide exchange factor 9
OMIM: 300429, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red ARHGEF9 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green ARHGEF9 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 300607
    Green ARHGEF9 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.173
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert
    Phenotypes
    • Developmental and epileptic encephalopathy 8, OMIM:300607
    Green ARHGEF9 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Developmental and epileptic encephalopathy 8, OMIM:300607
    Green ARHGEF9 in Severe Paediatric Disorders


    Version 1.182

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 8, 300607